What is PH1 disease?
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What is PH1 disease?
What is PH1? Primary hyperoxaluria type 1 (PH1) is a rare and serious disease that mainly affects the kidneys. Primary refers to being born with the disease. Hyper means above normal, and oxaluria refers to oxalate in the urine.
What is PH2 disease?
Primary hyperoxaluria type 2 (PH2) is a condition where the body produces too much oxalate (oxalic acid). The extra oxalate combines with calcium to cause kidney stones, which can eventually lead to kidney damage and kidney failure. Damage to other organs, including bones and blood vessels, may also occur.
Which enzyme is deficient in primary hyperoxaluria?
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine.
What is hyperoxaluria type 2?
Overview. Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones.
How many people have PH1?
PH1 is an ultra-rare, inherited disease in which excessive amounts of oxalate are produced by the liver. PH1 affects approximately 4 individuals per million in the United States and Europe, with an estimated 1,300 to 2,100 diagnosed cases.
How do you diagnose PH1?
To diagnose PH1, you may need:
- A kidney biopsy to show oxalate deposits in tissue.
- A bone marrow biopsy to show oxalate deposits in bone.
- A liver biopsy, which can show if you have an enzyme shortage caused by a mutation in your AGXT gene. (Enzymes are substances that speed up chemical reactions in your body.)
How do you test for hyperoxaluria?
Tests to diagnose hyperoxaluria may include:
- Urine tests, to measure oxalate and other metabolite levels in the urine.
- Blood tests, to show kidney function as well as oxalate levels in the blood.
- Stone analysis, to determine the composition of kidney stones passed or surgically removed.
Why do you get hyperoxaluria?
Hyperoxaluria can be caused by inherited (genetic) disorders, an intestinal disease or eating too many oxalate-rich foods. The long-term health of your kidneys depends on early diagnosis and prompt treatment of hyperoxaluria.
How common is hyperoxaluria?
Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.
Is PH1 hereditary?
PH1 is the most common and the most severe form, accounting for 70% to 80% of all cases. PH1 is an ultra-rare, inherited disease in which excessive amounts of oxalate are produced by the liver.
How do you know if you have an oxalate issue?
Possible signs of oxalic acid poisoning: abdominal pain, convulsions, kidney problems, low blood pressure, mouth and throat pain, shock, tremors, vomiting and weak pulse. First aid treatment includes drinking water or milk. Seek emergency care if these symptoms appear suddenly.
Can oxalates cause thyroid problems?
The oxalate crystals may have triggered an immune response to clear up the crystals which also damaged the surrounding tissue. This damage of our tissue by the immune system is known as auto-immunity and could play a part in the damage done to the thyroid, impairing it’s ability to produce thyroid hormones.
What are the symptoms of hyperoxaluria?
What are the symptoms of hyperoxaluria?
- Pain in the lower back or side of body.
- Nausea and/or vomiting with the pain.
- Blood in the urine.
- Pain when urinating.
- Unable to urinate.
- Feeling the need to urinate more often.
- Fever/chills.
- Urine that smells bad or looks cloudy.
How do you manage PH1?
Make healthy lifestyle choices
- Maintain a healthy weight and losing extra weight if you are overweight.
- Reduce the amount of salt in your diet to help control blood pressure or help reduce the risk for developing kidney stones.
- Speak to your healthcare team before taking any new medications, supplements, or herbs.
Is there a cure for PH1?
The only cure for primary hyperoxaluria type 1 is a liver transplant. A transplanted liver from a healthy donor will make the enzymes your body needs to break down oxalate. Because PH1 often damages the kidneys, too, some people may need both a liver and kidney transplant.
How is PH1 diagnosed?
To diagnose PH1, you may need: A kidney biopsy to show oxalate deposits in tissue. A bone marrow biopsy to show oxalate deposits in bone. A liver biopsy, which can show if you have an enzyme shortage caused by a mutation in your AGXT gene.
